Canonical Allele Identifier: CA248169

Gene: WHRN

Linked Data

• ClinVar Variation Id: 199137
• ClinVar RCV Id: RCV000218629 ; RCV000724324 ; RCV003947539
• dbSNP Id: rs373552185
• ExAC: 9:117168668 C / T
• gnomAD v2: 9-117168668-C-T
• gnomAD v3: 9-114406388-C-T
• gnomAD v4: 9-114406388-C-T
• MyVariant Identifiers: chr9:g.117168668C>T (hg19) ; chr9:g.114406388C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.114406388C>T , CM000671.2:g.114406388C>T	GRCh38
NC_000009.11:g.117168668C>T , CM000671.1:g.117168668C>T	GRCh37
NC_000009.10:g.116208489C>T	NCBI36
NG_016700.1:g.104069G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699485.1:c.547G>A	ENSP00000514396.1:p.Val183Ile
ENST00000362057.4:c.2203G>A MANE Select	ENSP00000354623.3:p.Val735Ile
ENST00000674036.8:c.1176G>A
ENST00000674048.1:n.2084G>A
ENST00000265134.10:c.1054G>A	ENSP00000265134.6:p.Val352Ile
ENST00000362057.3:c.2203G>A	ENSP00000354623.3:p.Val735Ile
ENST00000374059.7:c.1150G>A	ENSP00000363172.3:p.Val384Ile
NM_001083885.2:c.1054G>A	NP_001077354.2:p.Val352Ile
NM_001173425.1:c.2203G>A	NP_001166896.1:p.Val735Ile
NM_015404.3:c.2203G>A	NP_056219.3:p.Val735Ile
XM_005251897.3:c.1540G>A	XP_005251954.2:p.Val514Ile
XM_011518484.1:c.2236G>A	XP_011516786.1:p.Val746Ile
XM_011518485.1:c.2236G>A	XP_011516787.1:p.Val746Ile
XM_011518486.1:c.2236G>A	XP_011516788.1:p.Val746Ile
XM_011518487.1:c.2110G>A	XP_011516789.1:p.Val704Ile
XM_011518488.1:c.1993G>A	XP_011516790.1:p.Val665Ile
XM_011518495.1:c.913G>A	XP_011516797.1:p.Val305Ile
XR_929747.1:n.3140G>A
XR_929748.1:n.3038G>A
NM_001346890.1:c.1150G>A	NP_001333819.1:p.Val384Ile
XM_011518486.2:c.2236G>A	XP_011516788.1:p.Val746Ile
XM_011518487.2:c.2110G>A	XP_011516789.1:p.Val704Ile
XM_011518488.2:c.1993G>A	XP_011516790.1:p.Val665Ile
XR_929747.2:n.2451G>A
XR_929748.2:n.2349G>A
NM_015404.4:c.2203G>A MANE Select	NP_056219.3:p.Val735Ile
NM_001173425.2:c.2203G>A	NP_001166896.1:p.Val735Ile
NM_001083885.3:c.1054G>A	NP_001077354.2:p.Val352Ile